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La ricerca find articoli where authors phrase all words 'Zori, RT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 23 riferimenti
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    1. Stalker, HJ; Gray, BA; Zori, RT
      Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    2. Gray, BA; Bent-Williams, A; Wolff, DJ; Zori, RT
      A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX

      CLINICAL GENETICS
    3. Wallace, MR; Rasmussen, SA; Lim, IT; Gray, BA; Zori, RT; Muir, D
      Culture of cytogenetically abnormal Schwann cells from benign and malignant NFI tumors

      GENES CHROMOSOMES & CANCER
    4. Marsh, DJ; Kum, JB; Lunetta, KL; Bennett, MJ; Gorlin, RJ; Ahmed, SF; Bodurtha, J; Crowe, C; Curtis, MA; Dasouki, M; Dunn, T; Feit, H; Geraghty, MT; Graham, JM; Hodgson, SV; Hunter, A; Korf, BR; Manchester, D; Miesfeldt, S; Murday, VA; Nathanson, KL; Parisi, M; Pober, B; Romano, C; Tolmie, JL; Trembath, R; Winter, RM; Zackai, EH; Zori, RT; Weng, LP; Dahia, PLM; Eng, C
      PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

      HUMAN MOLECULAR GENETICS
    5. Boyadjiev, SA; Jabs, EW; LaBuda, M; Jamal, JE; Torbergsen, T; Ptacek, LJ; Rogers, RC; Nyberg-Hansen, R; Opjordsmoen, S; Zeller, CB; Stine, OC; Stalker, HJ; Zori, RT; Shapiro, RE
      Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23

      GENOMICS
    6. ZORI RT; GARDNER JL; ZHANG J; MULLAN MJ; SHAH R; OSBORN AR; HOULDEN H; WALLACE MR; ROBERTS S; YANG TP
      NEWLY DESCRIBED FORM OF X-LINKED ARTHROGRYPOSIS MAPS TO THE LONG ARM OF THE HUMAN X-CHROMOSOME

      American journal of medical genetics
    7. ARN PH; WILLIAMS CA; ZORI RT; DRISCOLL DJ; ROSENBLATT DS
      METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME

      American journal of medical genetics
    8. ZORI RT; BOYAR FZ; WILLIAMS WN; GRAY BA; BENTWILLIAMS A; STALKER HJ; RIMER LA; NACKASHI JA; DRISCOLL DJ; RASMUSSEN SA; DIXONWOOD V; WILLIAMS CA
      PREVALENCE OF 22Q11 REGION DELETIONS IN PATIENTS WITH VELOPHARYNGEAL INSUFFICIENCY

      American journal of medical genetics
    9. Zori, RT; Marsh, DJ; Graham, GE; Marliss, EB; Eng, C
      Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. GRAY BA; BENTWILLIAMS A; WADSWORTH J; MAIESE RL; BHATIA A; ZORI RT
      FLUORESCENCE IN-SITU HYBRIDIZATION ASSESSMENT OF THE TELOMERIC REGIONS OF JUMPING TRANSLOCATIONS IN A CASE OF AGGRESSIVE B-CELL NON-HODGKIN-LYMPHOMA

      Cancer genetics and cytogenetics
    11. STALKER HJ; ZORI RT
      VARIABLE EXPRESSION OF RIB, PECTUS, AND SCAPULAR ANOMALIES WITH ROBIN-TYPE CLEFT-PALATE IN A 5-GENERATION FAMILY - A NEW SYNDROME

      American journal of medical genetics
    12. STALKER HJ; AHMAD A; WILLIAMS CA; DIETZ H; ZORI RT
      ACROMICRIC DYSPLASIA WITH PROBABLE AUTOSOMAL RECESSIVE INHERITANCE

      American journal of human genetics
    13. STALKER HJ; AHMAD A; WILLIAMS CA; DIETZ H; ZORI RT
      AUTOSOMAL RECESSIVE SYNDROME OF CRANIOSYNOSTOSIS, MARFANOID HABITUS, AND DEVELOPMENTAL DELAY NOT LINKED TO FIBRILLIN-1 - A NEW SYNDROME

      American journal of human genetics
    14. LOSSIE AC; BOYAR FZ; FILBRANDT MM; ZORI RT; WILLIAMS CA; DRISCOLL DJ
      ANALYSIS OF UBE3A IN CLASSICAL AND ATYPICAL ANGELMAN PATIENTS

      American journal of human genetics
    15. RASMUSSEN SA; WILLIAMS CA; AYOUB EM; SLEASMAN JW; GRAY BA; BENTWILLIAMS A; STALKER HJ; ZORI RT
      JUVENILE RHEUMATOID-ARTHRITIS IN VELO-CARDIO-FACIAL SYNDROME - COINCIDENCE OR UNUSUAL COMPLICATION

      American journal of medical genetics
    16. MIGEON BR; JEPPESEN P; TORCHIA BS; FU SD; DUNN MA; AXELMAN J; SCHMECKPEPER BJ; FANTES J; ZORI RT; DRISCOLL DJ
      LACK OF X INACTIVATION ASSOCIATED WITH MATERNAL X ISODISOMY - EVIDENCE FOR A COUNTING MECHANISM PRIOR TO X INACTIVATION DURING HUMAN EMBRYOGENESIS

      American journal of human genetics
    17. WILLIAMS CA; ANGELMAN H; CLAYTONSMITH J; DRISCOLL DJ; HENDRICKSON JE; KNOLL JHM; MAGENIS RE; SCHINZEL A; WAGSTAFF J; WHIDDEN EM; ZORI RT
      ANGELMAN SYNDROME - CONSENSUS FOR DIAGNOSTIC-CRITERIA

      American journal of medical genetics
    18. ZORI RT; RASMUSSEN SA; AYOUB EM; GRAY BA; BENTWILLIAMS A; STALKER HJ; WILLIAMS CA
      JUVENILE RHEUMATOID-ARTHRITIS (JRA) IN 2 INDIVIDUALS WITH VELO-CARDIO-FACIAL SYNDROME

      American journal of human genetics
    19. DRISCOLL DJ; FILBRANDT M; GLENN CC; GRAY BA; BLAYDES SM; NICHOLLS RD; WHIDDEN EW; ZORI RT; WILLIAMS CA
      DISTRIBUTION OF GENOTYPIC CLASSES IN ANGELMAN SYNDROME

      American journal of human genetics
    20. WALLACE M; ZORI RT; ALLEY T; WHIDDEN E; GRAY BA; WILLIAMS CA
      SMITH-LEMLI-OPITZ SYNDROME IN A FEMALE WITH A DE-NOVO, BALANCED TRANSLOCATION INVOLVING 7Q32 - PROBABLE DISRUPTION OF AN SLOS GENE

      American journal of medical genetics
    21. ZORI RT; LUPSKI JR; ZHANG HJ; GREENBERG F; KILLIAN JM; GRAY BA; DRISCOLL DJ; PATEL PI; ZACKOWSKI JL
      CLINICAL, CYTOGENETIC, AND MOLECULAR EVIDENCE FOR AN INFANT WITH SMITH-MAGENIS SYNDROME BORN FROM A MOTHER HAVING A MOSAIC 17P11.2P12 DELETION

      American journal of medical genetics
    22. ZORI RT; GRAY BA; BENTWILLIAMS A; DRISCOLL DJ; WILLIAMS CA; ZACKOWSKI JL
      PREAXIAL ACROFACIAL DYSOSTOSIS (NAGER SYNDROME) ASSOCIATED WITH AN INHERITED AND APPARENTLY BALANCED X-9 TRANSLOCATION - PRENATAL AND POSTNATAL LATE REPLICATION STUDIES

      American journal of medical genetics
    23. ZORI RT; GARDNER JL; MULLAN M; ROBERTS S; WALLACE MR; YANG TP
      LINKAGE ANALYSIS OF A NOVEL FROM OF X-LINKED ARTHROGRYPOSIS

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/10/20 alle ore 19:09:12